Gene
vps33b
- ID
- ZDB-GENE-050327-73
- Name
- VPS33B late endosome and lysosome associated
- Symbol
- vps33b Nomenclature History
- Previous Names
-
- zgc:110803
- Type
- protein_coding_gene
- Location
- Chr: 7 Mapping Details/Browsers
- Description
- Involved in intrahepatic bile duct development. Predicted to localize to late endosome membrane and lysosomal membrane. Human ortholog(s) of this gene implicated in arthrogryposis, renal dysfunction, and cholestasis 1; cholestasis; and kidney disease. Is expressed in gut; liver; and pancreas. Orthologous to human VPS33B (VPS33B late endosome and lysosome associated).
- Genome Resources
- Note
- None
- Comparative Information
- All Expression Data
- 2 figures from Matthews et al., 2005
- Cross-Species Comparison
- High Throughput Data
- Thisse Expression Data
- No data available
Wild Type Expression Summary
- All Phenotype Data
- 3 figures from Matthews et al., 2005
- Cross-Species Comparison
- Alliance
Phenotype Summary
Mutations
Human Disease
Disease Ontology Term | Multi-Species Data | OMIM Term | OMIM Phenotype ID |
---|---|---|---|
arthrogryposis, renal dysfunction, and cholestasis 1 | Alliance | Arthrogryposis, renal dysfunction, and cholestasis 1 | 208085 |
Cholestasis, progressive familial intrahepatic, 12 | 620010 | ||
Keratoderma-ichthyosis-deafness syndrome, autosomal recessive | 620009 |
Domain, Family, and Site Summary
Type | InterPro ID | Name |
---|---|---|
Family | IPR001619 | Sec1-like protein |
Homologous_superfamily | IPR027482 | Sec1-like, domain 2 |
Homologous_superfamily | IPR036045 | Sec1-like superfamily |
Homologous_superfamily | IPR043127 | Sec1-like, domain 3a |
Homologous_superfamily | IPR043154 | Sec1-like, domain 1 |
Homologous_superfamily | IPR043155 | Vacuolar protein sorting-associated protein 33, domain 3b |
Domain Details Per Protein
Protein | Length | Sec1-like, domain 1 | Sec1-like, domain 2 | Sec1-like, domain 3a | Sec1-like protein | Sec1-like superfamily | Vacuolar protein sorting-associated protein 33, domain 3b |
---|---|---|---|---|---|---|---|
UniProtKB:Q58EN8
|
617 |
Type | Name | Annotation Method | Has Havana Data | Length (nt) | Analysis |
---|---|---|---|---|---|
mRNA |
vps33b-201
(1)
|
Ensembl | 2,634 nt | ||
mRNA |
vps33b-202
(1)
|
Ensembl | 1,899 nt |
Interactions and Pathways
No data available
Plasmids
No data available